肝胆胰外科杂志2026，Vol.38Issue(3)：214-217,4.DOI:10.11952/j.issn.1007-1954.2026.03.010
Gilbert综合征共患遗传性球形红细胞增多症行腹腔镜下脾切除术一例
Co-occurrence of Gilbert's syndrome and hereditary spherocytosis managed by laparoscopic splenectomy:A case report
摘要
Abstract
To report a case with Gilbert syndrome(GS)coexisting with hereditary spherocytosis(HS)who was treated with laparoscopic total splenectomy,and to discuss the clinical characteristics and key points of diagnosis and management.A 31-year-old female patient presented with the chief complaint of"aundice for over 20 years".The patient had a long history of recurrent,severe jaundice accompanied by hemolytic anemia.Abdominal ultrasound revealed splenomegaly(maximum diameter 21.74 cm).Genetic testing confirmed the diagnosis of GS coexisting with HS.Genetic sequencing identified a frameshift variant in the SPTA1 gene,an intronic variant in the SPTB gene,and a microdeletion in the MMACHC gene,supporting the HS diagnosis.Whole-exome sequencing of the UGT1A1 gene revealed multiple variant sites,consistent with GS.Due to symptomatic massive splenomegaly and progressive anemia,laparoscopic total splenectomy was performed after the exclusion of surgical and anesthetic contraindications.Postoperatively,the patient's red blood cell count,hemoglobin,total bilirubin,and indirect bilirubin levels improved significantly.The patient was discharged on postoperative day 6 without complications.The co-occurrence of GS and HS is relatively rare,characterized clinically by severe jaundice with only mild anemia.For patients complicated with massive splenomegaly,total splenectomy is an effective treatment option,which can rapidly relieve compressive symptoms,correct anemia,and reduce bilirubin levels.Postoperative management should focus on platelet monitoring,thrombosis prevention,and infection control.关键词
Gilbert综合征/遗传性球形红细胞增多症/腹腔镜脾切除术/基因检测/高胆红素血症Key words
Gilbert syndrome/hereditary spherocytosis/laparoscopic splenectomy/genetic testing/hyperbilirubinemia分类
医药卫生引用本文复制引用
孙渊洁,余杰..Gilbert综合征共患遗传性球形红细胞增多症行腹腔镜下脾切除术一例[J].肝胆胰外科杂志,2026,38(3):214-217,4.基金项目
山西省卫生健康委员会基金项目(2020088) （2020088）
山西省自然科学基金项目(20210302123260). （20210302123260）
